Overview
Since many IEMs are not readily apparent at birth, newborn screening enables crucial early detection of metabolic and genetic disorders. This allows for prompt intervention and management to improve the long-term prognosis.
The first tier in newborn screenings typically involves analyzing metabolites, enzyme activities or DNA sequence in dried blood spots. If results indicate abnormalities or a potential risk, the second confirmation tier examines additional biomolecules for additional insights.
Investigations for diagnosis and follow-up of IEMs
A combination of biochemical genetic investigations can provide an understanding of disorders and identify underlying metabolic and genetic abnormalities.
Biochemical profiling
In metabolite and protein testing levels of specific molecules in bodily fluids are analyzed for amino acids, urinary organic acids, blood acylcarnitines, urinary glycosaminoglycanes, and lysosphingolipids.
Functional analysis
Because IEMs are frequently due to a deficiency of enzymes or protein molecules, assessing enzyme activity, which directly reflects protein function, is key to diagnosis.
Genetic analysis
To confirm the molecular bases of the disease, molecular testing is used to detect genetic variants that contribute to inherited conditions such as cystic fibrosis, sickle cell disease, and Duchenne muscular dystrophy.
The following resources can assist your laboratory in addressing the complexity and challenge of inborn errors of metabolism and inherited metabolic diseases.
Newborn Dried Blood Spot (NDBS) screening
NDBS screening is used to identify rare genetic, metabolic, hormonal, and functional disorders to allow for early treatment.
Evaluation and comparison of nonderivatization and derivatization tandem mass spectrometry methods for multianalyte analysis in dried blood spots
Online sample preparation
Decrease laboratory costs and improve data quality for the most complex matrices. Enable fast cleanup of complex matrices collected for inborn errors of metabolism by utilizing accelerated online sample preparation.
Quantification of free metanephrines in human plasma by LC-MS/MS for clinical research
Peer reviewed articles, which show how our technologies have been used for effective newborn screening
Flow injection
Testing samples for amino acids or acylcarnitines? Obtain the highest throughput for a large sample load while providing accurate results.
Determination of Inborn Errors of Metabolism: Quantification of amino acids and acylcarnitines in dried blood spots by FIA-MS/MS for clinical research
Quantification of amino acids
Acylcarnitines in dried blood spots by FIA-MS/MS
High resolution
The combination of high-resolution, mass accuracy and stability ensures you have the highest level of spectral quality to simplify your most complex inborn error of metabolism challenges.
Development of a high-throughput hemoglobinopathies workflow using high resolution accurate mass analysis
Peer reviewed articles, which show how our technologies have been used for effective newborn screening
Discovery to routine
Discover comprehensive compound identification and characterization with simple method transfer to select compounds of interest and create a targeted panel for translational workflows. Discovery research in newborns can be easily translated to a targeted approach with Thermo solutions.
Robust, reproducible, and easy-to-implement plasma protein profiling workflow using high-flow UHPLC/MS/MS without depletion
Peer reviewed articles, which show how our technologies have been used for effective newborn screening
Ion chromatography
Are polar analytes, including polar organic acids, a challenge for your lab? Ion chromatography enables the separation and quantitative survey of a broad range of polar analytes that are difficult to analyze by chromatographic techniques.
Advances in metabolomics using untargeted IC-MS
See peer reviewed articles
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Testimonials
Thermo Fisher’s LC/MS platforms- a valuable tools for clinical labs
“The smooth addition of a consolidated LC-MS assay in our laboratory to accurately measure the main biomarkers for these diseases significantly improved the diagnosis and management of these complex disorders.”
Prof. Soumeya Bekri
Head of the Department of Metabolic Biochemistry, Rouen University Hospital, INSERM U1245
“Thermo Fisher LC-MS systems offer a range of advantages, including high sensitivity and selectivity, speed and efficiency, versatility, robustness, and ease of use. These capabilities make them valuable tools for clinical labs.”
On using LC-MS for inherited metabolic diseases
“LC-MS can provide several potential benefits in diagnosing and managing IMDs. These technologies can allow for more comprehensive testing of metabolic pathways and the detection of subtle metabolic abnormalities that traditional methods may not identify. “
Associate Prof. Abdellah Tebani
Department of Metabolic Biochemistry, Rouen University Hospital,
INSERM U1245
“LC-MS can provide faster and more accurate results, reducing the need for repeat testing and allowing for earlier diagnosis and treatment.
Furthermore, LC-MS can monitor treatment efficacy and disease progression over time, allowing for personalized treatment plans and better management of patients with IMDs.”
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